ESPE Yearbook of Paediatric Endocrinology

Address correspondence to: Stefano Cianfarani Bambino Gesù Children’s Hospital, Dipartimento Pediatrico Universitario Ospedaliero, IRCCS “Bambino Gesù” Children’s Hospital, Rome, Italy. P.zza S. Onofrio, 4 00165, Roma, Italy Tel. +39 06 6859 3074 (Hosp.) / +39 06 72596178 (Lab.) Fax. +39 06 6859 2508 (Hosp.)/ +39 06 72596172 (Lab.) E-mail: stefano.cianfarani@uniroma2.it

Preface

The majority of papers included in this selection of articles report clinical studies with potential impact on the diagnostic work-up and treatment of children with growth disorders. Two Cochrane systematic reviews, analyzing data on efficacy and safety of rhGH therapy in children with X-linked hypophosphatemia and cystic fibrosis, show that the evidence supporting such therapy is still insufficient. A prospective observational study in children with chronic kidney disease undergoing kidney transplantation (KT) suggests a positive effect of rhGH treatment prior to KT on long-term growth outcome after KT. A study in adults with Prader-Willi syndrome confirms what is already recognized in children, rhGH therapy seems to have no adverse impact on respiration and sleep parameters. A multi-center, prospective, randomized, double-blind, early intervention study evaluating the effects on growth of two different oral nutritional supplements administered for 90 days to children aged 24-48 months, suggests that early nutritional intervention represents a feasible option for improving growth in children of low-income countries. A randomized controlled trial in boys with constitutional delay of growth and puberty shows that testosterone increases growth velocity independently of aromatisation to estrogens. With regard to novel treatments for children with short stature, the era of long-acting GH (LAGH) in clinical practice is approaching. Two studies report positive results in terms of both efficacy and safety of two different weekly LAGH formulations. Next generation DNA sequencing application to children with severe short stature is providing novel insights into the genetics of human growth. Herein, two studies show the high prevalence of even unexpected genetic variants in children with short stature and minor skeletal anomalies as well as in children with suspected GH insensitivity. Finally, the discovery of a different impact of IGF1R signaling on cardiac function according to age, positive in early life and progressively detrimental with age, and the report of CRK haploinsufficiency as the first example of a genetic disorder affecting both GH and IGF signaling, represent new paradigms in normal and aberrant growth.